ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828572706
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966208
ClinVar RCV Id:
RCV001240830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362239.1:p.Gln2330Leu
CA375098602
NM_001375310.1:c.6989A>T